A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557813



Internal ID15998536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27495478..27503298hg38UCSC Ensembl
Innerchr12:27648411..27656231hg19UCSC Ensembl
Innerchr12:27539678..27547498hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg387821
hg197821
hg187821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2418n54
Supporting Variantsnssv789950, nssv789953, nssv789949, nssv789951, nssv789952
Samples
Known GenesSMCO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557813
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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